Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures

Ito, Minako; Ohmori, Iori; Nakahori, Tomoyuki; Ouchida, Mamoru; Ohtsuka, Yoko

doi:10.1016/j.neulet.2005.04.017

Cited by 18 publications

(10 citation statements)

References 23 publications

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“…Highly penetrant mutations have been discovered in a few large families segregating auto-somal dominant IGE (Cossette et al, 2002; Kananura et al, 2002; Haug et al, 2003; Suzuki et al, 2004). However screening for these variants in large cohorts of unrelated individuals with IGE has been negative (Lu et al, 2002; Nakayama et al, 2003; Ito et al, 2005). In addition families with large numbers of affected individuals are rarely seen, suggesting that highly penetrant mutations are probably uncommon.…”

Section: Introductionmentioning

confidence: 99%

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy

et al. 2008

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SummaryIntroduction-A crucial issue in the genetic analysis of idiopathic generalized epilepsy (IGE) is deciding on the phenotypes that are likely to give the greatest power to detect predisposing variants. A complex inheritance pattern and unclear nature of the genotype-phenotype correlation makes this task difficult. In the absence of much definitive genetic information to clarify this correlation, we inferred the putative effects of predisposing genes by studying the clustering of various phenotypic features, both clinical and electrophysiological, within families.

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Section: Introductionmentioning

confidence: 99%

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy

et al. 2008

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“…[ 24 ] Numerous studies have shown that the allelic and genotype frequencies of various SNPs of GABRG2 gene 588C > T and rs211037 polymorphism show wide variations across different world populations which is attributed to ethnic and phenotypic differences. [ 17 20 22 ] Hence in order to get significant findings, it is essential to do such studies in different populations followed by correlation of these findings. Although various studies support the fact that different subunits of GABRG2 receptor subtypes play differential roles in epilepsy; however, there are very few reports showing the role of genetic variants of GABRG2 in epilepsy and multiple drug resistance.…”

Section: Discussionmentioning

confidence: 99%

“…[ 21 ] Ito et al ., identified three different sequence variations C315T, T588C, and C1230T which do not seem to be a major genetic cause of epilepsy with typical and atypical absences in Japanese subjects. [ 22 ]…”

Section: Introductionmentioning

confidence: 99%

Mutations in GABRG2 receptor gene are not a major factor in the pathogenesis of mesial temporal lobe epilepsy in Indian population

Dixit¹,

Banerjee²,

Ansari³

et al. 2016

Ann Indian Acad Neurol

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Aim:This study is focused on GABRG2 gene sequence variations in patients with mesial temporal lobe epilepsy (mTLE). The GABAAreceptor is a heteropentameric receptor and alpha-1 beta-2 gamma-2 subunits combination is most abundant and present in almost all regions of the brain. The gamma-2 subunit (GABRG2) gene mutations have been reported in different epilepsy pathologies. In the present study we have looked for GABRG2 gene sequence variations in patients with mTLE.Materials and Methods:Twenty patients (12 females and eight males, age 4.6-38 years) with MTLE were recruited for this investigation. Patients were recommended for epilepsy surgery after all clinical investigations as per the epilepsy protocol. Ethnically matched glioma or meningioma patients were considered as nonepileptic controls. During temporal lobectomy of amygdalohippocampectomy, hippocampal brain tissue samples were resected guided by intraoperative electrocorticography (ECoG) activity. All 11 exons of GABRG2 gene with their flanking intronic regions were amplified by polymerase chain reaction (PCR) and screened by DNA sequencing analysis for sequence variations.Statistical Analysis Used:Comparison of allele frequencies between patient and control groups was determined using a c2 test.Results and Conclusions:Total five DNA sequence variations were identified, three in exonic regions (c.643A > G, rs211035), (c.T > A, rs424740), and (c.C > T, rs418210) and two in intronic regions (c.751 + 41A > G, rs211034) and (c.751 + 52G > A, rs 34281163). Allele frequencies of variants identified in this study did not differ between patients and normal controls. Thus, we conclude that GABRG2 gene may not be playing significant role in the development of epilepsy or as a susceptibility gene in patients with MTLE in Indian population.

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“…It has been reported that GABAergic neurotransmission plays an important role in stress, anx-iety, 35) pain 36) and epilepsy. 37) The non significant results observed at higher doses may be attributed to the fact that the concentration of constituents in the plant with such biological activities could be attributed to their activity with antagonist compounds whose concentrations increase with doses. Also those substances with possible toxic effects may be increasing when the dose of EAS of S. tiagii is higher.…”

Section: Discussionmentioning

confidence: 99%

Anxiolytic and Antiseizure Effects of Sida tiagii Bhandri

Datusalia

Kalra

Narasimhan

et al. 2008

JOURNAL OF HEALTH SCIENCE

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The central nervous system (CNS) pharmacological effects of ethylacetate extract (EAS) of Sida tiagii Bhandri collected from northern province (Rajasthan) of India were assessed by elevated plus-maze, pentobarbitone induced sleeping time, spontaneous motor activity, pentylenetetrazole-induced seizure, forced swim test and rotarod tests. The results of the present study demonstrated the CNS depressant potential, i.e., anxiolytic, antiseizure, reduction in spontaneous locomotion and potentiation of pentobarbital-induced hypnosis of the plant under investigation.

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Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures

Cited by 18 publications

References 23 publications

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy

Mutations in GABRG2 receptor gene are not a major factor in the pathogenesis of mesial temporal lobe epilepsy in Indian population

Anxiolytic and Antiseizure Effects of Sida tiagii Bhandri

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